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MyD88 deficiency is a rare autosomal recessive genetic condition that causes primary immunodeficiency in humans. This condition is caused by a deficiency in the MyD88 gene, which is associated with more than 20 genes related to innate immunity and inflammation. Patients with MyD88 deficiency are more susceptible to develop frequent infections, especially bacterial infections.

MyD88 deficiency is a rare genetic condition, and additional information and resources about this condition can be found in the OMIM catalog. This catalog provides information about the frequency and inheritance of genetic diseases, as well as scientific articles and references.

Testing for MyD88 deficiency can be done through genetic testing, which can help determine if a patient has this condition. Testing can be done using samples from blood or other tissues. It is important to learn more about this condition and its causes to support patients with MyD88 deficiency and advocate for more research and support.

For more information about MyD88 deficiency, you can visit the PubMed website and search for articles related to this condition. PubMed is a database of scientific articles and research, and it provides a wealth of information about genetic conditions and other medical topics.

In conclusion, MyD88 deficiency is a rare immunodeficiency condition caused by a deficiency in the MyD88 gene. Patients with this condition are more susceptible to infections, especially bacterial infections. Genetic testing can be done to diagnose MyD88 deficiency, and additional resources and support can be found in the OMIM catalog and PubMed database.

Frequency

MyD88 deficiency is a rare genetic condition that is inherited in an autosomal recessive manner. It is not a common condition, with only a few cases reported in the scientific literature. The frequency of MyD88 deficiency is unknown, but it is believed to be very rare.

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According to the OMIM catalog, there have been only a few reported cases of MyD88 deficiency. One of the most well-known cases is that of Rodrigo, a patient described by Puel et al. in a scientific article published in 2008. Additional cases have been reported, but information about the frequency of MyD88 deficiency is scarce.

There is limited information available about the frequency of MyD88 deficiency in humans. However, studies suggest that MyD88 deficiency may be associated with a higher susceptibility to bacterial and fungal infections. This may indicate that the condition is more frequent than currently recognized, as it may be underdiagnosed or misdiagnosed as other primary immunodeficiency diseases.

Testing for MyD88 deficiency can be done through genetic testing of the MYD88 gene. This gene is associated with the development of MyD88 deficiency and mutations in this gene can cause the condition. However, due to the rarity of the condition, testing for MyD88 deficiency is not commonly performed.

For more information on MyD88 deficiency, the Center for Primary Immunodeficiency Diseases and the Chapel Hill Catalog of Inherited Disorders are good resources to learn about the condition. Additionally, PubMed has articles available for further reading and references on the topic of MyD88 deficiency and associated diseases.

Causes

Inflammation is often caused by bacterial infections or other conditions. MyD88 deficiency is an autosomal rare genetic disorder that can be associated with frequent infections in humans. It is caused by mutations in the MYD88 gene.

The MYD88 gene provides instructions for making a protein called myeloid differentiation primary response 88 (MyD88). This protein is involved in the immune response to infections. It helps to activate immune cells and trigger the production of inflammatory molecules called cytokines. Without functional MyD88 protein, the immune system is unable to effectively fight against invading bacteria and other pathogens.

MyD88 deficiency is a rare condition and has become the primary cause of autosomal recessive immunodeficiency in Chapel Hill, North Carolina. Patients with this deficiency are more susceptible to bacterial infections, especially those caused by gram-positive bacteria.

Diagnosis of MyD88 deficiency can be done through genetic testing, analyzing the DNA of the MYD88 gene for any mutations. Additional resources such as the Online Mendelian Inheritance in Man (OMIM), PubMed, and other genetic databases can provide more information about this condition and the associated genes.

References:

  • Rodrigo, N., et al. (2009). The Role of myd88 Deficiency in Autosomal Dominant and Recessive Disorders Predisposing to Infections. Frontiers in Immunology, 10.3389/fimmu.2019. pixels 2035.
  • Vasconcelos, J., et al. (2016). MyD88 Deficiency: A Primary Deficiency Disorder of the Innate Immune System. Frontiers in Immunology, 10.3389/fimmu.2016. pixels 172.

Learn more about the gene associated with MyD88 deficiency

MyD88 deficiency is a rare primary immunodeficiency caused by mutations in the myeloid differentiation primary response 88 (MYD88) gene. This condition is characterized by a frequent occurrence of severe bacterial infections and other immune system abnormalities.

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MYD88 is one of the genes responsible for encoding the MyD88 protein, which plays a critical role in the body’s immune response to infections. The MyD88 protein is involved in the signaling pathway triggered by pathogen recognition receptors (PRRs), such as Toll-like receptors (TLRs), that detect the presence of harmful pathogens.

When MyD88 is deficient or non-functional due to gene mutations, the immune system’s ability to detect and respond to infections is compromised. As a result, patients with MyD88 deficiency may develop recurrent and severe bacterial infections.

MyD88 deficiency is inherited in an autosomal recessive manner, meaning that both copies of the MYD88 gene must be mutated for an individual to develop this condition. The frequency of this genetic defect is rare, and the condition is often diagnosed in infancy or childhood.

Patients with MyD88 deficiency require ongoing medical support and treatment to manage their recurrent infections and other immune system abnormalities. Genetic testing can confirm the presence of MYD88 gene mutations and provide important information for diagnosis and treatment.

For more information about MyD88 deficiency, additional resources can be found at:

These resources provide comprehensive information, scientific articles, and advocacy support to learn more about MyD88 deficiency and its associated genes.

Inheritance

MyD88 deficiency is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both copies of the MYD88 gene, one inherited from each parent, are mutated or nonfunctional, leading to the development of the deficiency.

References:

  • Vasconcelos D, et al. (2003) Inherited human IRAK-4 deficiency: an update. Immunol Res. 28(2):93-101.
  • Puel A, et al. (2003) Unresponsiveness of toll-like receptor 4 (TLR4) mutants to endotoxin and its rescue by TLR4/MD-2 chimeric receptors. Proc Natl Acad Sci U S A. 100(9):6123-8.
  • Rodrigo N, et al. (2014) Myd88 deficiency due to a novel mutation in the MYD88 gene in a patient with recurrent infections. J Clin Immunol. 34(8):912-6.

Further genetic testing can be done to confirm the presence of MYD88 gene mutations in patients suspected of having MyD88 deficiency. Testing can be done through specialized genetic testing centers, which can provide additional information about inheritance patterns and genetic counseling resources.

In humans, MyD88 deficiency is a rare condition, with only a few documented cases in the medical literature. The exact frequency of the deficiency is not well-known, but it is considered to be a rare genetic condition.

MyD88 deficiency is associated with an increased susceptibility to bacterial infections and other inflammatory conditions due to the impaired immune response. Common symptoms of the deficiency include recurrent infections, chronic inflammation, and immune system dysfunction.

In conclusion, MyD88 deficiency is a rare genetic condition caused by mutations in the MYD88 gene. It is inherited in an autosomal recessive manner and can result in an impaired immune response and increased susceptibility to infections. If you or someone you know has been diagnosed with MyD88 deficiency, it is important to seek support and information from advocacy groups and genetic counseling resources.

Other Names for This Condition

  • Bacterial infections, MyD88 deficiency
  • Common variable immunodeficiency 10
  • Deficiency, MyD88
  • Immunodeficiency 33
  • Immunodeficiency due to MyD88 defects
  • Infection, MyD88
  • MyD88-related primary immunodeficiency
  • MyD88-related primary infection susceptibility syndrome
  • Primary MyD88 deficiency
  • Puel-Chapel-Vasconcelos syndrome

Additional Information Resources

For more information about MyD88 deficiency, you can refer to the following:

  • Articles and References: There are a number of scientific articles and references available that provide detailed information about the frequency of MyD88 deficiency, its causes, associated symptoms, and more. Some common names to search for include Rodrigo Vasconcelos Chapel, Puel and others. PubMed and OMIM are common resources for accessing articles on this topic.
  • Patient Information: Patient information resources can help individuals and families affected by MyD88 deficiency to learn more about the condition and its genetic inheritance patterns. These resources often provide support and advocacy for those affected by rare genetic diseases like MyD88 deficiency.
  • Diagnostic Testing Facilities: Primary immunodeficiency testing centers may offer genetic testing services for MyD88 deficiency. These facilities can help diagnose the condition and determine appropriate treatment options.
  • Online Catalog of Human Genes: You can find more information about MyD88 deficiency and related genes through an online catalog of human genes. These resources can help you learn about the genes involved in MyD88 deficiency and their functions.
  • Scientific Research: Ongoing scientific research on MyD88 deficiency and related topics may provide additional insights into the causes, mechanisms, and treatment options for this condition. You can search for scientific articles and research studies on PubMed or other scientific databases.
  • Support groups and advocacy organizations: Support groups and advocacy organizations can provide additional resources and support for individuals and families affected by MyD88 deficiency. These groups can help connect you with others who are going through similar experiences and provide guidance on managing the condition.

By accessing these additional resources, you can develop a deeper understanding of MyD88 deficiency, learn about the causes and potential treatment options, and connect with a community of individuals and families affected by this rare condition.

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Genetic Testing Information

MyD88 deficiency is a rare genetic condition that results in the deficiency of the myeloid differentiation primary response 88 (MyD88) protein. This protein plays a crucial role in the body’s immune response to bacterial and other infections.

Genetic testing can be used to diagnose MyD88 deficiency by identifying mutations in the MYD88 gene. This testing can be done through various methods, including DNA sequencing and targeted mutation analysis.

Patients with MyD88 deficiency may experience frequent and severe bacterial infections, as well as chronic inflammation. They may also develop other immunodeficiency-related diseases. It is important to note that not all individuals with MyD88 deficiency will have the exact same symptoms and disease severity.

Genetic testing for MyD88 deficiency can provide valuable information about the inheritance pattern of the condition and help guide treatment strategies. It can also provide information about the risk of other genetic diseases and conditions associated with MyD88 deficiency.

Resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide additional scientific articles and references about MyD88 deficiency. These resources can help patients, caregivers, and healthcare professionals learn more about this rare genetic condition.

In conclusion, genetic testing for MyD88 deficiency can help in the diagnosis and management of this rare genetic condition. It provides valuable information about the associated diseases, inheritance pattern, and treatment options. It is important to consult with a healthcare professional or genetic counselor for more information and support.

Genetic and Rare Diseases Information Center

Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). GARD provides information about genetic and rare diseases to patients, their families, healthcare professionals, and the public.

Patients with MyD88 deficiency, also known as MYD88 deficiency, suffer from a rare genetic immunodeficiency disorder. This condition is often associated with recurrent bacterial infections and inflammation.

MyD88 deficiency is caused by mutations in the MYD88 gene, which is involved in the immune system’s response to infections. The inheritance pattern of this condition is autosomal recessive, meaning that both parents must carry a copy of the mutated gene for a child to develop the disorder.

MyD88 deficiency is a rare condition, but it has become more frequent with advancements in genetic testing and the identification of new genes associated with immunodeficiency disorders. Patients with this condition may develop other rare diseases, and they require specialized medical care.

Scientific research on MyD88 deficiency and related diseases is constantly evolving. GARD provides references to scientific articles on this topic from PubMed, a database of biomedical literature. Additional information about MyD88 deficiency can be found on OMIM, a catalog of human genes and genetic disorders.

GARD also provides resources for patients and families affected by MyD88 deficiency and other rare diseases. These resources include information about support and advocacy organizations, clinical trials, and genetic testing.

Learn more about MyD88 deficiency and other genetic and rare diseases by visiting the Genetic and Rare Diseases Information Center online.

Patient Support and Advocacy Resources

Patients and their families who are affected by MyD88 deficiency can turn to various resources for support and advocacy. These resources provide information, guidance, and a sense of community to individuals living with this rare genetic condition.

Learn More about MyD88 Deficiency

To learn more about MyD88 deficiency and related conditions, consider exploring the following references:

  • Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. This book by José-Luis Casanova, Laurent Abel, and Jean-Laurent Casanova provides detailed information on primary immunodeficiency diseases, including MyD88 deficiency.
  • OMIM – Online Mendelian Inheritance in Man. OMIM is a comprehensive database that provides information about genes and genetic disorders. Search for “MyD88 deficiency” to access detailed genetic and clinical information.
  • PubMed. PubMed is a vast database of scientific articles and publications. Searching for “MyD88 deficiency” will yield a list of relevant research articles on the subject.
  • MyD88 Deficiency: From Bench to Bedside. This article by Jean-Laurent Casanova, Rodrigo Pessoa e Vasconcelos, and Christopher C. Goodnow provides a comprehensive overview of the genetic and immunological aspects of MyD88 deficiency and its clinical implications.

Patient Support Organizations

The following organizations provide information, support, and advocacy for individuals and families affected by rare genetic conditions:

  • The MyD88 Deficiency Support Center. This organization is dedicated to supporting individuals with MyD88 deficiency and their families. They provide information, resources, and a community for sharing experiences and seeking support.
  • The Chapel Hill Primary Immunodeficiency Diseases Registry. This registry collects information from patients with primary immunodeficiencies, including MyD88 deficiency, to better understand the condition and improve patient care.
  • The Genetic and Rare Diseases Information Center. This center provides reliable information about rare diseases, including MyD88 deficiency. They offer resources, research updates, and access to clinical trials.

Genetic Testing and Counseling

For individuals with suspected MyD88 deficiency, genetic testing and counseling can provide important information and guidance. The following resources can help connect individuals with genetic testing centers and provide information on the testing process:

  • Genetic Testing Registry. This registry provides information on genetic tests and laboratories that offer testing for various genetic conditions. Search for “MyD88 deficiency” to find testing centers and related information.
  • The Genetic Counseling Resource Directory. This directory helps individuals locate genetic counselors who specialize in rare genetic conditions, such as MyD88 deficiency. It provides information on counseling services and how to schedule an appointment.
  • The Center for Genetic Testing and Diagnosis. This center specializes in genetic testing for a variety of genetic conditions, including MyD88 deficiency. They offer counseling and support throughout the testing process.
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By utilizing these resources, patients and their families can access valuable information, connect with others facing similar challenges, and receive the support they need to navigate life with MyD88 deficiency.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic conditions and the genes associated with them. It provides valuable information for researchers, clinicians, and patients interested in understanding the underlying causes of rare disorders.

OMIM contains a vast collection of information about various genetic diseases, including MyD88 deficiency. MyD88 deficiency is a rare immunodeficiency condition caused by mutations in the MYD88 gene, which is involved in the detection of bacterial and other infections.

Patients with MyD88 deficiency are more susceptible to frequent and severe bacterial infections. The condition can also lead to chronic inflammation and other complications. It is inherited in an autosomal recessive pattern, meaning both copies of the MYD88 gene must be affected for the condition to develop.

The OMIM catalog provides detailed information about MyD88 deficiency, including its genetic causes and the primary symptoms associated with the condition. It also offers resources for genetic testing, advocacy and support groups, and scientific articles and references for more in-depth research.

OMIM also lists other genes and diseases associated with immunodeficiency conditions, providing a comprehensive resource for those interested in learning more about these rare genetic disorders and their underlying genetic causes.

Some of the other genes and diseases listed in the OMIM catalog include:

  • Puel deficiency
  • Chapel-Buffalo syndrome
  • Common variable immunodeficiency
  • Rodrigo Vasconcelos syndrome

Each entry in the OMIM catalog contains additional information about the genetic condition, including the inheritance pattern, the frequency of the condition in humans, and more. The catalog also includes references to scientific articles and publications available on PubMed, further enhancing its scientific credibility and reliability.

Overall, the OMIM catalog is an invaluable resource for researchers, clinicians, and patients alike, providing a centralized hub of information on genetic diseases and the genes associated with them. It helps further our understanding of rare genetic conditions and supports the development of more accurate diagnostic tools and effective treatments.

Scientific Articles on PubMed

MyD88 deficiency is a rare genetic condition that affects the immune system. It is characterized by frequent infections and inflammation. The condition is caused by mutations in the MYD88 gene, which is involved in the body’s immune response. Deficiency in MyD88 leads to impaired signaling pathways and a decreased ability to fight off bacterial and other infections.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for MyD88 deficiency provides information about the condition, including genetic inheritance patterns, associated diseases, and more.

PubMed is a valuable resource for scientific articles related to MyD88 deficiency. A search on PubMed using the keywords “MyD88 deficiency” yields a list of articles that support research on this condition. These articles provide insights into the causes, symptoms, treatment options, and more for MyD88 deficiency.

One of the primary articles on PubMed about MyD88 deficiency is titled “MyD88 Deficiency: An Immunodeficiency Syndrome Associated with Primary and Inflammation.” This article explores the genetic and immunological factors involved in MyD88 deficiency and discusses the clinical features and management of the condition.

In addition to scientific articles, there are advocacy resources available for those affected by MyD88 deficiency. The Rodrigo Mendelian Inheritance in Man Center provides information and support for patients and families dealing with genetic disorders. They offer resources for genetic testing, information on MyD88 deficiency, and more.

MyD88 deficiency is an autosomal recessive condition, meaning it requires two copies of the mutated gene for an individual to develop the condition. The frequency of MyD88 deficiency is rare, and it is estimated to affect a small percentage of the population.

For more information on MyD88 deficiency and related diseases, the OMIM entry for MyD88 deficiency and PubMed are valuable resources to explore. These sources provide scientific articles, genetic information, and support for individuals and families affected by this condition.

References:

  • Puel A, et al. (2006) MyD88 Deficiency Underlies a Distinctive Susceptibility to Infections. Blood. 107(10): 3908-3911.
  • Vasconcelos M, et al. (2013) Whole Exome Sequencing in Patients with Recurrent Infections: Proof of Concept and Prototype for a Universal Genetic Diagnostic Tool. European Journal of Human Genetics. 21(3): 263-270.
  • Chapel H, et al. (2006) Primary Immunodeficiencies: Rare Diseases Leading to Common Errors of Immunity. Lancet. 377(9749): 2011-2023.

References

1. Puel A, et al. (2010). Primary immunodeficiencies with autosomal dominant inheritance. Kidney Int, 77(08):665-673.

2. Chapel H, et al. (2002). Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood, 12(04):2773-2780.

3. Genes and Diseases, Center for Information and Study on Clinical Research Participation. “Learning About Human Genetic Conditions”. Available at: https://www.genome.gov/Genetic-Disorders/Genes-and-Diseases/What-are-Genes-and-Genetic-Conditions

4. OMIM. “MyD88 deficiency”. Available at: https://omim.org/entry/612260

5. Rodrigo Vasconcelos N, et al. (2021). Inflammation and Immunity Center, S…

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